根据一项人类基因组研究，一个人出现年龄相关性黄斑性变（AMD）的风险可能与帮助调节HDL胆固醇水平的一个基因有关。
Johanna Seddon及其同事搜索了将近1000位晚期AMD患者并发现了与该病有关的几个候选基因，最明显的是LIPC基因的一个变种。LIPC携带着负责合成一种催化HDL（也就是所谓的“好胆固醇”）代谢的酶的遗传编码。
此前的研究表明HDL信号传导路径和AMD有关，当前的这些发现表明了AMD风险的增加或减少与胆固醇水平不稳定的关联。这组作者提出，HDL和AMD之间的遗传关联并非一个直接的因果关系，而可能代表了一个多效的关系，即单个基因可以决定看上去不相关的性状。
在一篇相关论文中，Anand Swaroop及其同事也报告了LIPC和同样的HDL路径的关联，他们提出进一步研究HDL信号传导可能提供关于AMD治疗和预防的见解。(生物谷Bioon.com)
延伸阅读：
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生物谷推荐原文出处：
PNAS doi:10.1073/pnas.0912019107
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
Benjamin M. Nealea,b,c,1, Jesen Fagernessa,b,1, Robyn Reynoldsd, Lucia Sobrine, Margaret Parkerd, Soumya Raychaudhuria,b, Perciliz L. Tanf, Edwin C. Ohf, Joanna E. Merriamg, Eric Souiedh, Paul S. Bernsteini, Binxing Lii, Jeanne M. Fredericki, Kang Zhangi,j, Milam A. Brantley Jr.k,l, Aaron Y. Leek, Donald J. Zackf, Betsy Campochiarof, Peter Campochiarof, Stephan Ripkea,b, R. Theodore Smithg, Gaetano R. Barileg, Nicholas Katsanism, Rando Allikmetsg,n, Mark J. Dalya,b,2, and Johanna M. Seddond,o,1,2
Advanced age-related macular degeneration (AMD) is the leading cause of late onset blindness. We present results of a genome-wide association study of 979 advanced AMD cases and 1,709 controls using the Affymetrix 6.0 platform with replication in seven additional cohorts (totaling 5,789 unrelated cases and 4,234 unrelated controls). We also present a comprehensive analysis of copy-number variations and polymorphisms for AMD. Our discovery data implicated the association between AMD and a variant in the hepatic lipase gene (LIPC) in the high-density lipoprotein cholesterol (HDL) pathway (discovery P = 4.53e-05 for rs493258). Our LIPC association was strongest for a functional promoter variant, rs10468017, (P = 1.34e-08), that influences LIPC expression and serum HDL levels with a protective effect of the minor T allele (HDL increasing) for advanced wet and dry AMD. The association we found with LIPC was corroborated by the Michigan/Penn/Mayo genome-wide association study; the locus near the tissue inhibitor of metalloproteinase 3 was corroborated by our replication cohort for rs9621532 with P = 3.71e-09. We observed weaker associations with other HDL loci (ABCA1, P = 9.73e-04; cholesterylester transfer protein, P = 1.41e-03; FADS1-3, P = 2.69e-02). Based on a lack of consistent association between HDL increasing alleles and AMD risk, the LIPC association may not be the result of an effect on HDL levels, but it could represent a pleiotropic effect of the same functional component. Results implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD.
